DDHD1 Gene SPG28 NGS Genetic Test
Short Name: DDHD1 SPG28 NGS Test
Also known as: DDHD1 Gene Test, SPG28 Genetic Test, Hereditary Spastic Paraplegia Type 28 NGS Test
DDHD1 Gene SPG28 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The report is usually ready in 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DDHD1 gene that are associated with SPG28. A confirmed molecular diagnosis can help guide clinical management, support genetic counseling, clarify recurrence risks for family members, and assist in reproductive planning.
- Test Code
- 4528
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The report is usually ready in 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A genetic counseling session to draw a pedigree chart of family members affected with DDHD1 Gene SPG28 Disease is recommended before testing. Please carry prior medical records, imaging reports, and family history information.
Method: Peripheral blood sampling / FTA card blood spot / Extracted DNA submission
Laboratory Analysis
A trained phlebotomist will collect a blood sample, submit an extracted DNA sample, or collect one drop of blood on an FTA card using sterile equipment. The procedure is routine and takes only a few minutes.
Report Delivery
After sample collection, you can resume normal activities. If you experience bleeding or bruising at the puncture site, apply gentle pressure. The laboratory will provide an estimated report date and updates as needed.
Timeline: The report is usually ready in 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DDHD1 gene that are associated with SPG28. A confirmed molecular diagnosis can help guide clinical management, support genetic counseling, clarify recurrence risks for family members, and assist in reproductive planning.
How to Prepare
- No fasting is required
- Informed consent and genetic counseling are required before testing
- FTA cards must be labeled and dried after the blood spot is applied
- Extracted DNA samples must be clearly labeled with patient identifiers
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Hereditary spastic paraplegia is a clinical diagnosis supported by genetic testing. In women planning pregnancy, preconception counseling and carrier testing can provide useful information when a DDHD1 mutation is identified in the family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Inadequate sample quantity
- Mislabeled or unlabeled sample
- Sample that does not meet laboratory quality requirements
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Supports the clinical diagnosis of SPG28 and helps guide clinical care, management, and genetic counseling.
Variant of uncertain significance (VUS)
Requires additional family segregation studies or further molecular testing; cannot be used alone to confirm or exclude SPG28.
No pathogenic variant detected
Reduces the likelihood of SPG28, but does not exclude other hereditary spastic paraplegia genes or other genetic mechanisms.
Consult a neurologist or clinical geneticist if you or a family member have unexplained leg weakness, spasticity, gait problems, balance difficulties, or foot deformities. Genetic counseling is also advised before and after testing to understand the implications of the result.
Limitations
- ⚠This test analyzes only the DDHD1 gene and will not detect mutations in other genes responsible for hereditary spastic paraplegia
- ⚠A variant of uncertain significance (VUS) may require additional family studies
- ⚠A negative result does not completely exclude SPG28 because deep intronic variants or other variant types may not be covered by the NGS assay
Risks & Considerations
- ●Pain or bruising at the blood collection site
- ●Bleeding or hematoma
- ●Infection at the puncture site (rare)
- ●Anxiety or dizziness during blood collection
- ●Psychological impact of receiving a genetic test result
Interfering Factors
- ●Clinically similar phenotypes may be caused by mutations in other genes not covered by this test
- ●Degraded or contaminated DNA may affect sequencing quality
- ●Certain types of variants, such as large structural rearrangements, may not be detected depending on the assay
Frequently Asked Questions
What is the DDHD1 Gene SPG28 NGS Genetic Test?
What does SPG28 mean?
What are the symptoms of SPG28?
How is SPG28 inherited?
What type of sample is required?
Is fasting required before the test?
How long does the test take?
Do you provide home sample collection?
What is the cost of the test?
Who should take this test?
What do the test results mean?
Is genetic counseling included with this test?
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